In February 2009, Wendi Scheck was just 34 weeks pregnant going for what she thought would be a normal ultrasound—until she was informed that her soon-to-be born son had a heart tumor.
A few months later, Wendi’s son, Hudson, was born. The first two days of his life were scary for the new mom, as her son had 200 seizures and developed more tumors in the brain and the kidneys.
The Alpharetta resident was referred to Children’s Healthcare of Atlanta where Robert Flamini, M.D., Medical Director of Children’s Epilepsy Center diagnosed Hudson with tuberous sclerosis.
Tuberous sclerosis is a rare, multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs, such as the kidneys, heart, eyes, lungs and skin. A combination of symptoms may include seizures, developmental delay, behavioral problems, skin abnormalities, and lung and kidney disease.
After researching more about Hudson’s diagnosis, Wendi found the Tuberous Sclerosis Alliance of Georgia and was referred to a facility located in Boston.
“One in 6,000 children is born with tuberous sclerosis every day. Therefore, the care for these children is very specialized,” Dr. Flamini said. “In most cases, parents have to schedule appointments with different doctors in their city because this complex disease affects several parts of the body.”
In January 2010, in partnership with the Tuberous Sclerosis Alliance (TSA), Children’s opened the Tuberous Sclerosis Complex (TSC) Clinic. The first of its kind in Georgia, this virtual clinic coordinates annual visits with up to seven different physicians to ensure patients with TSC have access to pediatric specialists. This thorough review is provided to the patient family by the TSC medical director and also is sent to the patient's primary care physician.
“The opening of the TSC Clinic is one of the many examples of the pediatric differential offered at Children’s. We saw the need to create a central location for our patients as more children were being diagnosed,” Dr. Flamini said. “With the help of the TSA, we will be able to help more children.”
Although the clinic has been open for a few months, families in Georgia and surrounding areas appreciate the convenience and quality of the service.
And Wendi, who is now chair of the Tuberous Sclerosis Alliance of Georgia, is grateful as she celebrated Hudson’s first birthday in April. With the help of the TSC Clinic and Children’s, she will be able to celebrate many more.